Literature DB >> 6307432

Delta +-thalassemia in Sardinia.

M Pirastu, R Galanello, M A Melis, C Brancati, A Tagarelli, A Cao, Y W Kan.   

Abstract

We have defined a new type of delta-thalassemia in which beta-globin chain synthesis is incompletely suppressed. Homozygotes have unusually low HbA2 levels, and double heterozygosity for this delta-thalassemia gene and beta-thalassemia normalizes the HbA2 level. The delta-thalassemia occurs on a chromosome that is identifiable using polymorphic restriction endonuclease sites. We call this condition delta +-thalassemia, to distinguish it from the previously described delta 0-thalassemia syndromes in which no delta-globin chain synthesis occurs.

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Year:  1983        PMID: 6307432

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  2 in total

1.  A novel delta zero-thalassemia arising from a frameshift insertion, detected by direct sequencing of enzymatically amplified DNA.

Authors:  M Losekoot; R Fodde; P C Giordano; L F Bernini
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

2.  1993 William Allan award address.

Authors:  A Cao
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

  2 in total

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